rs770241913

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;C)	3	Carrier of a multiple sulfatase deficiency mutation
(C;C)	0	common in clinvar

Make rs770241913(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

4418074

Gene

SUMF1

is a	snp
is	mentioned by
dbSNP	rs770241913
dbSNP (classic)	rs770241913
ClinGen	rs770241913
ebi	rs770241913
HLI	rs770241913
Exac	rs770241913
Gnomad	rs770241913
Varsome	rs770241913
LitVar	rs770241913
Map	rs770241913
PheGenI	rs770241913
Biobank	rs770241913
1000 genomes	rs770241913
hgdp	rs770241913
ensembl	rs770241913
geneview	rs770241913
scholar	rs770241913
google	rs770241913
pharmgkb	rs770241913
gwascentral	rs770241913
openSNP	rs770241913
23andMe	rs770241913
SNPshot	rs770241913
SNPdbe	rs770241913
MSV3d	rs770241913
GWAS Ctlg	rs770241913

Max Magnitude

3

ClinVar
Risk	rs770241913(-;-)
Alt	rs770241913(-;-)
Reference	Rs770241913(C;C)
Significance	Pathogenic
Disease	Multiple sulfatase deficiency
Variation	info
Gene	SUMF1
CLNDBN	Multiple sulfatase deficiency
Reversed	0
HGVS	NC_000003.11:g.4459758delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002790.4,